Canonical Allele Identifier: CA6417451

Gene: GNB3

Linked Data

• ClinVar Variation Id: 1639238
• ClinVar RCV Id: RCV002128903
• dbSNP Id: rs781784104
• ExAC: 12:6952260 C / T
• gnomAD v2: 12-6952260-C-T
• gnomAD v3: 12-6843096-C-T
• gnomAD v4: 12-6843096-C-T
• MyVariant Identifiers: chr12:g.6952260C>T (hg19) ; chr12:g.6843096C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6843096C>T , CM000674.2:g.6843096C>T	GRCh38
NC_000012.11:g.6952260C>T , CM000674.1:g.6952260C>T	GRCh37
NC_000012.10:g.6822521C>T	NCBI36
NG_009100.1:g.7886C>T
NG_009100.2:g.7886C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229264.8:c.203+20C>T MANE Select	ENSP00000229264.3:n.203+20C>T
ENST00000229264.7:c.203+20C>T	ENSP00000229264.3:n.203+20C>T
ENST00000435982.6:c.203+20C>T	ENSP00000414734.2:n.203+20C>T
ENST00000537035.1:c.203+20C>T	ENSP00000445967.1:n.203+20C>T
ENST00000539127.5:c.*223+20C>T	ENSP00000444325.1:n.*223+20C>T
ENST00000540458.5:n.1554+20C>T
ENST00000541257.5:c.203+20C>T	ENSP00000442002.1:n.203+20C>T
ENST00000541978.5:c.203+20C>T	ENSP00000439753.2:n.203+20C>T
NM_001297571.1:c.203+20C>T	NP_001284500.1:n.203+20C>T
NM_002075.3:c.203+20C>T	NP_002066.1:n.203+20C>T
XM_011520953.1:c.203+20C>T	XP_011519255.1:n.203+20C>T
XM_011520954.1:c.203+20C>T	XP_011519256.1:n.203+20C>T
XM_011520953.3:c.203+20C>T	XP_011519255.1:n.203+20C>T
NM_001297571.2:c.203+20C>T	NP_001284500.1:n.203+20C>T
NM_002075.4:c.203+20C>T MANE Select	NP_002066.1:n.203+20C>T